Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCC4_chr13_95014835_95306451	95244652	A A	AGGAAGGA others(90): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAACGAAGGAACGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0004 a0002c0020t0004	a0002c0020t0004g0130 a0002c0020t0004g0130	1	212	0.0047	97	c.306 others(114): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC GTTCCTTCGTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCCCTGC others(90): Show GTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	225	0.0044	97	c.37 others(108): Show c.3716_*3717insGCAGAGACACGGGACGGGGCAGAGACACGGGACG GGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGG GACGGAGCAGGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ACSF2_chr17_50421218_50479837	50476185	G G	GCCCCCTT others(90): Show GCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0215	1	317	0.0032	97	c.16 others(108): Show c.1633_*1634insCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACC TCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTC GCAGCGCGGCTGC	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		1349		chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770567	C C	CGTAAATA others(90): Show CGTAAATATAAATATATAAAAATTTATATTTATATATCGTTTATATTTAT ATATCGTAAATATAAATATATAAAAATTTATATTTATATATCGTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	175	0.0057	97	c.-10 others(108): Show c.-1048_-1047insATTTACGATATATAAATATAAATTTTTATATATT TATATTTACGATATATAAATATAAACGATATATAAATATAAATTTTTATA TATTTATATTTAC	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1007		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770903	A A	AATATATA others(90): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	186	0.0054	97	c.-13 others(108): Show c.-1384_-1383insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1343		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATATATA others(90): Show AATATATAAAAATTTATATTTAGATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18906.hp2 NA19009.hp2 HG02015.hp2 NA18906.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	3	80	0.0375	97	c.-14 others(108): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATCTAAATATA AATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATATATA others(90): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01516.hp1 HG01517.hp2 others(25): Show HG01074.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01993.hp2 HG02015.hp1 HG02135.hp2 HG02148.hp2 HG02300.hp1 HG02723.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp2 NA18947.hp1 NA18959.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0020	28	105	0.2667	97	c.-14 others(108): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ADAM23_chr2_206438532_206626127	206580866	T T	TTTCCACT others(90): Show TTTCCACTACCAAACCACCACTACAAGAACTGCTAAAAGGAGCTCTAAAT CTTGAAACAAATCCTGGAAACACATCAAAACAGAACCTCTTTAAAGCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	356	0.0028	97	c.173 others(116): Show c.1738-6457_1738-6456insCCACTACCAAACCACCACTACAAGAA CTGCTAAAAGGAGCTCTAAATCTTGAAACAAATCCTGGAAACACATCAAA ACAGAACCTCTTTAAAGCATT	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADARB2_chr10_1172313_1742525	1239773	C C	CCTCCCGG others(90): Show CCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0033 a0002c0002t0005g0033	1	104	0.0096	97	c.136 others(116): Show c.1361+2357_1361+2358insACAGAGGGGAGTAAACACCGGGAGGC AGAGGGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGGA GGGGGGAGTAAACACCGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADCY4_chr14_24313359_24340071	24337053	T T	TTAGTGCA others(90): Show TTAGTGCATCCCCTAATCCTGTCAATGTCTCACCTGATTCCCTCGGGGTC CAGGACTTGGTGTTCCAGTTGAGGTAGGGCTGGGCATCTGGTTTCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	436	0.0023	97	c.-24 others(108): Show c.-2498_-2402dupTCAGAAACCAGATGCCCAGCCCTACCTCAACTGG AACACCAAGTCCTGGACCCCGAGGGAATCAGGTGAGACATTGACAGGATT AGGGGATGCACTA	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding		1983		chr14	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(90): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	58	0.0172	97	c.210 others(118): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(90): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	58	0.0172	97	c.210 others(118): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131005650	G G	GCCCTGGG others(90): Show GCCCTGGGTGAGCCTGGCCCTCCCTGCAGGGGCTCTGAGACTGTGGGATG CCCTGGGTGAGCCTGGCTCTCCCTGCAGGGGCTCTGAGACCGTGGGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00609.hp2 others(71): Show HG00280.hp1 HG00323.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18961.hp1 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0025 a0001c0045 a0002c0012 a0002c0031 a0002c0040 a0005c0011 a0005c0021 a0007c0037 a0010c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0002t0037 a0001c0002t0046 a0001c0002t0048 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0018 a0001c0003t0029 a0001c0003t0033 a0001c0003t0034 a0001c0003t0041 a0001c0003t0045 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0008 a0001c0008t0001 a0001c0009t0004 a0001c0009t0014 a0001c0013t0007 a0001c0014t0004 a0001c0019t0004 a0001c0020t0002 a0001c0022t0016 a0001c0023t0004 a0001c0025t0021 a0001c0045t0002 a0002c0012t0017 a0002c0031t0003 a0002c0040t0022 a0005c0011t0002 a0005c0011t0008 a0005c0021t0021 a0007c0037t0042 a0010c0034t0026	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0212 others(71): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0212 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0009g0145 a0001c0001t0016g0148 a0001c0001t0023g0144 a0001c0001t0028g0205 a0001c0002t0001g0010 a0001c0002t0001g0125 a0001c0002t0001g0175 a0001c0002t0001g0223 a0001c0002t0002g0105 a0001c0002t0003g0041 a0001c0002t0003g0057 a0001c0002t0008g0016 a0001c0002t0010g0139 a0001c0002t0010g0143 a0001c0002t0010g0201 a0001c0002t0037g0194 a0001c0002t0046g0084 a0001c0002t0048g0152 a0001c0003t0002g0187 a0001c0003t0004g0012 a0001c0003t0004g0104 a0001c0003t0004g0198 a0001c0003t0004g0207 a0001c0003t0004g0234 a0001c0003t0006g0019 a0001c0003t0006g0058 a0001c0003t0006g0092 a0001c0003t0006g0211 a0001c0003t0018g0117 a0001c0003t0029g0214 a0001c0003t0033g0182 a0001c0003t0034g0014 a0001c0003t0041g0079 a0001c0003t0045g0042 a0001c0004t0002g0011 a0001c0004t0002g0114 a0001c0004t0005g0082 a0001c0005t0001g0112 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0206 a0001c0005t0001g0239 a0001c0005t0008g0226 a0001c0008t0001g0184 a0001c0009t0004g0103 a0001c0009t0014g0077 a0001c0013t0007g0154 a0001c0013t0007g0155 a0001c0014t0004g0106 a0001c0019t0004g0230 a0001c0020t0002g0181 a0001c0022t0016g0109 a0001c0023t0004g0166 a0001c0025t0021g0119 a0001c0045t0002g0091 a0002c0012t0017g0159 a0002c0031t0003g0089 a0002c0040t0022g0096 a0005c0011t0002g0110 a0005c0011t0008g0047 a0005c0021t0021g0048 a0007c0037t0042g0046 a0010c0034t0026g0043	74	221	0.3348	97	c.125 others(114): Show c.1256-305_1256-304insCCTCCCTGCAGGGGCTCTGAGACTGTGG GATGCCCTGGGTGAGCCTGGCTCTCCCTGCAGGGGCTCTGAGACCGTGGG ATCCCTGGGTGAGCCTGGC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131005650	G G	GCCCTGGG others(90): Show GCCCTGGGTGAGCCTGGCCCTCCCTGCAGGGGCTCTGAGACTGTGGGATG CCCTGGGTGAGCCTGGCTCTTCCTGCAGGGGCTCTGAGACCGTGGGAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG01884.hp2 others(9): Show HG00738.hp2 HG01496.hp1 HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0002c0032 a0003c0029 a0003c0030 a0006c0035 a0008c0026	a0001c0001t0002 a0001c0003t0004 a0001c0003t0012 others(6): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0012 a0001c0005t0001 a0002c0032t0038 a0003c0029t0031 a0003c0030t0032 a0006c0035t0047 a0008c0026t0013	a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0003t0004g0121 others(9): Show a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0012g0025 a0001c0003t0012g0027 a0001c0005t0001g0044 a0002c0032t0038g0090 a0003c0029t0031g0222 a0003c0030t0032g0160 a0006c0035t0047g0219 a0008c0026t0013g0238	12	159	0.0755	97	c.125 others(114): Show c.1256-305_1256-304insCCTCCCTGCAGGGGCTCTGAGACTGTGG GATGCCCTGGGTGAGCCTGGCTCTTCCTGCAGGGGCTCTGAGACCGTGGG ATCCCTGGGTGAGCCTGGC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRV1_chr5_90553797_91169437	90721576	T T	TAAAATAA others(90): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAAATAAAATAAAAATAAAATATAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0018 a0018	a0018c0047 a0018c0047	a0018c0047t0003 a0018c0047t0003	a0018c0047t0003g0013 a0018c0047t0003g0013	1	8	0.1250	97	c.974 others(114): Show c.9748+533_9748+534insAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAAATAAAATAAAAATAAAATAT AAAAAAATAAAATAAAATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADSS1_chr14_104719229_104752310	104721066	C C	CCTCGTGT others(90): Show CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCCTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA19088.hp2 NA18986.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0175 a0001c0002t0001g0176	2	400	0.0050	97	c.-32 others(108): Show c.-3205_-3204insCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCCTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3162		chr14	TogoVar
AFAP1_chr4_7753714_7944861	7864141	A A	ACATTCCC others(90): Show ACATTCCCAACTTCCCATCACAAACCCATTCCCAACTTCCCATCACAACA CATTCCCAACTTCCCATCACAACGCATTCCCAACTTCCCATCACAACG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0182 a0001c0003t0020g0182	1	161	0.0062	97	c.225 others(114): Show c.225+4480_225+4481insCGTTGTGATGGGAAGTTGGGAATGCGTT GTGATGGGAAGTTGGGAATGTGTTGTGATGGGAAGTTGGGAATGGGTTTG TGATGGGAAGTTGGGAATG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17			chr4	TogoVar
AHRR_chr5_316714_443285	324005	C C	CCCTTTCC others(90): Show CCCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20300.hp2 NA19240.hp2 NA20300.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0013 a0004c0003t0037 a0004c0003t0013 a0004c0003t0037	a0004c0003t0013g0221 a0004c0003t0037g0240 a0004c0003t0013g0221 a0004c0003t0037g0240	2	236	0.0085	97	c.-11 others(114): Show c.-11+2186_-11+2187insCCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTTCTTTCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10			chr5	TogoVar
AK5_chr1_77277019_77564966	77444329	T T	TAGTATAA others(90): Show TAGTATAAATATATACTATATATAGTATATACATAGTATAAATATATACT ATATATAGTATATACATAGTATAAATATATACTATATATAGTATATAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18986.hp2 NA19003.hp1 NA18942.hp2 NA18986.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0194 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0194	3	268	0.0112	97	c.105 others(118): Show c.1059+26615_1059+26616insGTATAAATATATACTATATATAGT ATATACATAGTATAAATATATACTATATATAGTATATACATAGTATAAAT ATATACTATATATAGTATATACA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATG others(90): Show TATATATGTATGTATATATATATATATATATGTGTGTGTATATATATGTA TACATATATATATGTGTGTGTATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0182 a0002c0001t0002g0182	1	194	0.0052	97	c.416 others(118): Show c.4162-25661_4162-25660insATATATGTATGTATATATATATAT ATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGTATAT ATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATGTA others(90): Show TATATGTATGTATATATATATATATATATATGTGTGTGTATATATATGTA TACATATATATATGTGTGTGTATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03831.hp2 NA19057.hp1 HG01346.hp2 HG03831.hp2 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0021 a0002c0001t0002 a0002c0001t0021	a0002c0001t0002g0020 a0002c0001t0002g0187 a0002c0001t0021g0282 a0002c0001t0002g0020 a0002c0001t0002g0187 a0002c0001t0021g0282	3	196	0.0153	97	c.416 others(118): Show c.4162-25661_4162-25660insATATGTATGTATATATATATATAT ATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGTATAT ATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATGTATG others(90): Show TATGTATGTATATATATATATATATATATGTGTGTGTGTATATATATGTA TACATATATATATGTGTGTGTATATATATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0026 a0026	a0026c0036 a0026c0036	a0026c0036t0034 a0026c0036t0034	a0026c0036t0034g0063 a0026c0036t0034g0063	1	194	0.0052	97	c.416 others(118): Show c.4162-25661_4162-25660insATGTATGTATATATATATATATAT ATATGTGTGTGTGTATATATATGTATACATATATATATGTGTGTGTATAT ATATGTGTATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105036129	T T	TATATACA others(90): Show TATATACATATATTTATATATGTGTATATATATTATATAGACACGTATAT TTATATATGTATATATAATATATACATATATTTATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02293.hp1 NA19091.hp2 HG01952.hp2 HG02293.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0249 a0001c0001t0004g0291 a0001c0001t0004g0084 a0001c0001t0004g0249 a0001c0001t0004g0291	3	382	0.0079	97	c.214 others(116): Show c.2146-1732_2146-1731insTATATATACATATATAAATATATGTA TATATTATATATACATATATAAATATACGTGTCTATATAATATATATACA CATATATAAATATATGTATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(90): Show CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCACTCCCCTCCCCTCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0016 a0003c0003t0002g0016	2	227	0.0088	97	c.512 others(114): Show c.512-5419_512-5418insTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCACTCCCCTCCCC TCCCCTCCCCTCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690379	T T	TCCCCTCC others(90): Show TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	270	0.0037	97	c.512 others(114): Show c.512-5328_512-5327insTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690384	T T	TCCCCCTC others(90): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01106.hp1 others(5): Show HG00323.hp2 HG00642.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp2 HG03704.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0005 a0003c0003t0001g0052 a0003c0003t0001g0116 others(4): Show a0003c0003t0001g0005 a0003c0003t0001g0052 a0003c0003t0001g0116 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0002g0014 a0003c0003t0002g0153	8	244	0.0328	97	c.512 others(114): Show c.512-5328_512-5327insTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMFR_chr16_56356452_56430545	56406095	G G	GGGGGGAG others(90): Show GGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGAGGGGGGAGAGGG GGGAGGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0325 a0001c0002t0012g0325	1	342	0.0029	97	c.667 others(112): Show c.667-852_667-851insTCCCCTCCCCCCTCTCCCCCCCCTCCCCCC TCTCCCCCCTCCCCTCCCCCCTCTCCCCCCTCCCCTCCCCCCTCTCCCCC CCTCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406095	G G	GGGGGGGA others(90): Show GGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGAGGGGGGAGAGG GGGGAGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0323 a0001c0002t0012g0324 a0001c0002t0012g0323 a0001c0002t0012g0324	2	343	0.0058	97	c.667 others(112): Show c.667-852_667-851insTCCCCTCCCCCCTCTCCCCCCCTCCCCCCT CTCCCCCCTCCCCTCCCCCCTCTCCCCCCTCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCTCCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(90): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0020 a0002c0001t0001g0020	1	84	0.0119	97	c.37- others(112): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(90): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18995.hp1 HG01975.hp1 NA18995.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0074 a0004c0004t0001g0063 a0003c0003t0001g0074 a0004c0004t0001g0063	2	85	0.0235	97	c.37- others(112): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(90): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0277 a0003c0009t0002g0277	1	272	0.0037	97	c.37- others(112): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANO3_chr11_26327130_26668289	26529110	T T	TATAATAT others(90): Show TATAATATTATATAATATATAATAATATATAATATATAATTATATAATAT ATTATTATATATTATATATTATTATATATTATATAATATATTATTATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	67	0.0149	97	c.738 others(114): Show c.738-2095_738-2094insATAATATTATATAATATATAATAATATA TAATATATAATTATATAATATATTATTATATATTATATATTATTATATAT TATATAATATATTATTATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26			chr11	TogoVar
AP3S2_chr15_89825599_89898994	89854896	G G	GGGGGGGT others(90): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02040.hp1 HG02074.hp2 others(1): Show HG01071.hp1 HG02040.hp1 HG02074.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0041 a0001c0001t0003 a0001c0001t0008 a0001c0001t0041	a0001c0001t0003g0093 a0001c0001t0003g0105 a0001c0001t0008g0099 others(1): Show a0001c0001t0003g0093 a0001c0001t0003g0105 a0001c0001t0008g0099 a0001c0001t0041g0110	4	310	0.0129	97	c.345 others(116): Show c.345+16578_345+16579insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APLF_chr2_68462585_68585162	68542358	G G	GAAATGAC others(90): Show GAAATGACAACCTATGGAATGGGATAAAATATTTGCAAATTATATATCTG ATAAGGATTAATGTCTAGAATACATAAAGACAACCTATGGAATGGGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp1 others(3): Show HG01109.hp1 HG01167.hp1 HG01169.hp1 HG03209.hp1 HG03540.hp1 HG06807.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0012 a0002c0002 a0011c0012	a0002c0002t0007 a0011c0012t0007 a0002c0002t0007 a0011c0012t0007	a0002c0002t0007g0001 a0002c0002t0007g0029 a0002c0002t0007g0030 others(2): Show a0002c0002t0007g0001 a0002c0002t0007g0029 a0002c0002t0007g0030 a0002c0002t0007g0031 a0011c0012t0007g0028	6	174	0.0345	97	c.116 others(116): Show c.1161-2750_1161-2749insCAACCTATGGAATGGGATAAATGACA ACCTATGGAATGGGATAAAATATTTGCAAATTATATATCTGATAAGGATT AATGTCTAGAATACATAAAGA	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCCTCTT others(90): Show CTCCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	82	0.0122	97	c.570 others(112): Show c.570-772_570-771insCTCTTTCTCTCTTTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTC	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP35_chr19_46855997_47010077	46879587	A A	AAAATAAA others(90): Show AAAATAAATAAATAAATAAAGGTTGCAGTGAGCCAAGATCGCGCCACTGC ACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03471.hp2 HG03486.hp1 HG02895.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0044 a0001c0001t0002g0231 a0001c0001t0021g0067 a0001c0001t0002g0044 a0001c0001t0002g0231 a0001c0001t0021g0067	3	91	0.0330	97	c.-18 others(118): Show c.-189+18397_-189+18398insGGTTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAAT AAATAAATAAATAAATAAATAAA	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1824951	T T	TCCCTCCG others(90): Show TCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0319 a0001c0003t0001g0319	1	312	0.0032	97	c.-48 others(112): Show c.-48+838_-48+839insCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CTCGCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASCC3_chr6_100503194_100886329	100608401	A A	ATATATGT others(90): Show ATATATGTATACCTTATATGTATACCTTATATATGTATACCTTATATATA TACCTTATATATGTATACCTTATATATATACCTTATATATGTATACCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0003 a0018c0017t0003	a0018c0017t0003g0133 a0018c0017t0003g0133	1	243	0.0041	97	c.478 others(116): Show c.4786-1314_4786-1313insAGGTATACATATATAAGGTATATATA TAAGGTATACATATATAAGGTATATATATAAGGTATACATATATAAGGTA TACATATAAGGTATACATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608407	A A	ATACCTTA others(90): Show ATACCTTATATATGTATACCTTATATATATACCTTATATATGTATACCTT ATATATATACCTTATATATGTATACCTTATATATATACCTTATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03098.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0308 a0003c0004t0001g0211 a0003c0004t0001g0308	2	305	0.0066	97	c.478 others(116): Show c.4786-1320_4786-1319insCATATATAAGGTATATATATAAGGTA TACATATATAAGGTATATATATAAGGTATACATATATAAGGTATATATAT AAGGTATACATATATAAGGTA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CCTTATAT others(90): Show CCTTATATATATATTTTATATATATATACCTTATATATATATTTTATATA TATATACTTTATATATATATTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0068 a0002c0003t0002g0068	1	154	0.0065	97	c.478 others(116): Show c.4786-1375_4786-1374insATATATATATAAAGTATATATATATA AAATATATATATAAAGTATATATATATAAAATATATATATAAGGTATATA TATATAAAATATATATATAAG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CTTTATAT others(90): Show CTTTATATATATATTTTATATATATATACTTTATATATATATTTTATATA TATATACTTTATATATATATTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01255.hp1 others(10): Show HG01074.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01993.hp1 HG02004.hp2 HG02273.hp2 HG02300.hp2 HG02615.hp2 NA19077.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0002 a0002c0003t0018 a0004c0008t0003 a0002c0003t0002 a0002c0003t0018 a0004c0008t0003	a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 others(10): Show a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0049 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0018g0311 a0004c0008t0003g0056	13	166	0.0783	97	c.478 others(116): Show c.4786-1375_4786-1374insATATATATATAAAGTATATATATATA AAATATATATATAAAGTATATATATATAAAATATATATATAAAGTATATA TATATAAAATATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608490	C C	CTTTATAT others(90): Show CTTTATATATATATTTTATATATATATACTTTATATATATATTTTATATA TATATACTTTATATATATATTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	133	0.0075	97	c.478 others(116): Show c.4786-1403_4786-1402insATATATATATAAAGTATATATATATA AAATATATATATAAAGTATATATATATAAAATATATATATAAAGTATATA TATATAAAATATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ATP13A3_chr3_194397677_194492002	194421128	A A	ATATATAG others(90): Show ATATATAGTATATATATATATAGTTTATATATATATAGTTTATATATATA AACTATATATATATAAACTATATATATATAAACTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	302	0.0033	97	c.331 others(116): Show c.3314-1162_3314-1161insGTATATATATATATAGTTTATATATA TATAGTTTATATATATATAGTTTATATATATAAACTATATATATATAAAC TATATATATATATACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTATATAT others(90): Show GTATATATATATATATATATAGTTTATATATATATAGTTTATATATATAA ACTATATATATATAAACTATATATATATATATACTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0155 a0001c0001t0014g0155	1	87	0.0115	97	c.331 others(116): Show c.3314-1171_3314-1170insTATATATATATATAGTATATATATAT ATATAGTTTATATATATATAGTTTATATATATAAACTATATATATATAAA CTATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82959035	C C	CTGTGTGG others(90): Show CTGTGTGGGGGTGTATGGTGTGTGTGTGTATACTGTGTGGGGGTGTATGT GTGTGTGTGTACACTGTGGGGGTGTATGGTGTGTGTGTGTGTATACTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp1 HG02922.hp2 HG03486.hp1	a0004 a0004	a0004c0017 a0004c0019 a0004c0017 a0004c0019	a0004c0017t0002 a0004c0019t0004 a0004c0017t0002 a0004c0019t0004	a0004c0017t0002g0137 a0004c0019t0004g0192 a0004c0017t0002g0137 a0004c0019t0004g0192	2	171	0.0117	97	c.681 others(114): Show c.681-1542_681-1541insCAGTATACACACACACACACCATACACC CCCACAGTGTACACACACACACATACACCCCCACACAGTATACACACACA CACCATACACCCCCACACA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
BAG5_chr14_103551551_103567657	103563165	C C	CTGTTTTA others(90): Show CTGTTTTATTGTTCATCAATTACTAAAGCATAAGACCAGACACAGTTCTG AATTCAAATAATTTTAGAGAATTTAACTTCTATAAATTTAAAATTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	97	c.-57 others(106): Show c.-579_-578insAACAATTTTAAATTTATAGAAGTTAAATTCTCTAAA ATTATTTGAATTCAGAACTGTGTCTGGTCTTATGCTTTAGTAATTGATGA ACAATAAAACA	BAG5	ENSG00000166170.12	transcript	ENST00000299204.6	protein_coding		509		chr14	TogoVar
BCKDK_chr16_31103386_31117791	31105092	A A	AGTCCGGG others(90): Show AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	298	0.0034	97	c.-35 others(108): Show c.-3565_-3564insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCT GGCCAGCCGCCCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3293		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31105141	A A	AGTCCGGG others(90): Show AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA18906.hp1 HG02258.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0007 a0001c0001t0001g0015	2	16	0.1250	97	c.-35 others(108): Show c.-3516_-3515insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCT GGCCAGCCGCCCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3244		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31105141	A A	AGTCCGGG others(90): Show AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	15	0.0667	97	c.-35 others(108): Show c.-3516_-3515insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3244		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(90): Show AGTGATGGTGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATAATGGTGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG00741.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0017 a0001c0002t0008g0115 a0001c0002t0001g0017 a0001c0002t0008g0115	2	42	0.0476	97	c.487 others(112): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCACCACCATCACCACCACCATCACCATCACCACAAAGTACCATG ACCACCAGCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar

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